Article: Hyperinsulinisme congénital : apports de la biologie, de la réponse thérapeutique, de la génétique et de l’imagerie.
2024 Volume 79, Issue 3, Page(s) 168–174
Abstract: Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications. Management of those ... ...
| Title translation | Congenital hyperinsulinism : contributions of chemistry, therapeutic response, genetics and imaging. | |||||
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| Abstract | Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications. Management of those patients involves biological evaluation, molecular genetics, imaging techniques and surgical advances. We report the case of a newborn with recurrent hypoglycemia due to congenital hyperinsulinism (CHI) caused by a new variant in the ABCC8 gene. Fluorine 18-L-3,4 Dihydroxyphenylalanine Positron Emission Tomography (18F-DOPA PET/CT scan) reported a focal lesion at the isthmus of the pancreas which has been removed by laparoscopic surgery with a complete recovery for the patient. |
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| MeSH term(s) | Child ; Humans ; Infant, Newborn ; Infant ; Positron Emission Tomography Computed Tomography ; Congenital Hyperinsulinism/diagnostic imaging ; Congenital Hyperinsulinism/genetics ; Congenital Hyperinsulinism/pathology ; Pancreas/pathology ; Pancreas/surgery ; Positron-Emission Tomography/methods ; Laparoscopy | |||||
| Language | French | |||||
| Publishing date | 2024-03-15 | |||||
| Publishing country | Belgium | |||||
| Document type | Case Reports ; English Abstract ; Journal Article | |||||
| ZDB-ID | 414001-1 | |||||
| ISSN | 0370-629X ; 0035-3663 | |||||
| ISSN | 0370-629X ; 0035-3663 | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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